Mutagenetix > Incidental Mutation

Incidental Mutation 'R4654:Edil3'

351569

Institutional Source

Beutler Lab

Gene Symbol

Edil3

Ensembl Gene

ENSMUSG00000034488

Gene Name

EGF-like repeats and discoidin I-like domains 3

Synonyms

Del-1, Del1, developmental endothelial locus-1

MMRRC Submission

041914-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4654 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88969591-89471342 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89437589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 397 (K397E)

Ref Sequence

ENSEMBL: ENSMUSP00000080462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043111] [ENSMUST00000081769]

AlphaFold

O35474

Predicted Effect

probably damaging
Transcript: ENSMUST00000043111
AA Change: K387E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000044652
Gene: ENSMUSG00000034488
AA Change: K387E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF	25	60	2.03e-6	SMART
EGF	67	107	1.62e-5	SMART
EGF_CA	109	145	4.32e-10	SMART
FA58C	147	304	3.7e-58	SMART
FA58C	308	466	1.44e-37	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000081769
AA Change: K397E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080462
Gene: ENSMUSG00000034488
AA Change: K397E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF	25	60	2.03e-6	SMART
EGF	77	117	1.62e-5	SMART
EGF_CA	119	155	4.32e-10	SMART
FA58C	157	314	3.7e-58	SMART
FA58C	318	476	1.44e-37	SMART

Meta Mutation Damage Score

0.2733

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (98/101)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with no noticeable fur phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	A	T	8: 25,193,819 (GRCm39)	C398S	probably damaging	Het
Adamts10	A	G	17: 33,756,304 (GRCm39)	K316E	possibly damaging	Het
Ap1m1	T	C	8: 73,006,717 (GRCm39)	F238L	possibly damaging	Het
Aph1a	T	A	3: 95,803,088 (GRCm39)	D180E	probably benign	Het
Atp9b	A	G	18: 80,935,093 (GRCm39)	F201L	probably benign	Het
Btbd9	A	C	17: 30,704,561 (GRCm39)		probably benign	Het
C2cd5	T	C	6: 142,975,910 (GRCm39)	T768A	probably benign	Het
Casq1	C	T	1: 172,037,965 (GRCm39)		probably benign	Het
Cimap2	C	A	4: 106,467,612 (GRCm39)	M341I	probably benign	Het
Cltc	A	T	11: 86,617,196 (GRCm39)	M351K	probably benign	Het
Cnp	A	G	11: 100,469,877 (GRCm39)	E271G	possibly damaging	Het
Col22a1	T	C	15: 71,845,544 (GRCm39)	D406G	possibly damaging	Het
Cylc2	T	C	4: 51,228,279 (GRCm39)	S117P	probably benign	Het
Cyp2b13	T	C	7: 25,761,072 (GRCm39)	L43P	probably damaging	Het
Cyp3a16	A	G	5: 145,373,267 (GRCm39)	V500A	probably benign	Het
Dclk2	T	C	3: 86,743,683 (GRCm39)	D262G	probably damaging	Het
Dcun1d3	A	C	7: 119,458,742 (GRCm39)	Y98D	probably damaging	Het
Ddx39b	A	G	17: 35,472,464 (GRCm39)	*429W	probably null	Het
Dennd5b	T	C	6: 148,908,335 (GRCm39)	N986S	probably damaging	Het
Dipk1a	T	C	5: 108,057,982 (GRCm39)		probably null	Het
Dusp9	G	A	X: 72,684,378 (GRCm39)	R182Q	probably benign	Het
Ecpas	A	T	4: 58,834,523 (GRCm39)	I785N	possibly damaging	Het
Ehd1	T	C	19: 6,326,994 (GRCm39)		probably benign	Het
Fam13a	A	T	6: 58,964,152 (GRCm39)	H93Q	probably benign	Het
Farp1	T	C	14: 121,513,716 (GRCm39)	I837T	possibly damaging	Het
Fbxl5	T	A	5: 43,922,771 (GRCm39)	I216F	probably damaging	Het
Gadl1	G	A	9: 115,770,408 (GRCm39)	E74K	probably damaging	Het
Gnpnat1	A	G	14: 45,618,436 (GRCm39)	V122A	probably damaging	Het
Hdac10	C	T	15: 89,011,036 (GRCm39)		probably benign	Het
Heatr5b	T	C	17: 79,128,130 (GRCm39)	S502G	possibly damaging	Het
Hr	C	A	14: 70,801,013 (GRCm39)	A695E	probably damaging	Het
Ift80	A	T	3: 68,825,870 (GRCm39)	I490N	possibly damaging	Het
Ipo11	A	G	13: 106,970,692 (GRCm39)		probably benign	Het
Iqch	T	G	9: 63,432,195 (GRCm39)	Y400S	probably damaging	Het
Jag2	C	T	12: 112,877,266 (GRCm39)	D702N	probably benign	Het
Kiss1r	T	A	10: 79,757,624 (GRCm39)	L326Q	probably damaging	Het
Lrrc42	A	T	4: 107,104,746 (GRCm39)	I73N	probably damaging	Het
Lrrc55	C	T	2: 85,026,880 (GRCm39)	G48D	possibly damaging	Het
Lrrk2	T	C	15: 91,649,884 (GRCm39)	S1674P	probably damaging	Het
Mctp2	A	G	7: 71,739,942 (GRCm39)	L816P	probably damaging	Het
Mipol1	A	T	12: 57,352,918 (GRCm39)	T86S	probably benign	Het
Mkrn3	C	T	7: 62,069,452 (GRCm39)	R113H	probably damaging	Het
Mmp1b	A	G	9: 7,370,849 (GRCm39)	V302A	probably benign	Het
Msc	A	T	1: 14,826,053 (GRCm39)		probably null	Het
Msmo1	C	A	8: 65,180,888 (GRCm39)	V9L	probably benign	Het
Nbeal2	G	A	9: 110,461,072 (GRCm39)	R1630C	probably damaging	Het
Nlgn1	C	T	3: 26,187,850 (GRCm39)	V12I	possibly damaging	Het
Npas3	T	C	12: 54,108,915 (GRCm39)		probably null	Het
Nr2e3	A	G	9: 59,856,355 (GRCm39)		probably benign	Het
Oca2	C	T	7: 55,978,560 (GRCm39)	A576V	probably benign	Het
Or5b21	T	A	19: 12,839,596 (GRCm39)	C152*	probably null	Het
Or6d12	T	C	6: 116,493,409 (GRCm39)	Y224H	probably damaging	Het
Or6z7	T	C	7: 6,484,045 (GRCm39)	T37A	probably benign	Het
Parp6	A	G	9: 59,548,383 (GRCm39)		probably null	Het
Pate13	T	A	9: 35,820,287 (GRCm39)	C4S	probably damaging	Het
Phlpp1	A	T	1: 106,267,231 (GRCm39)	M715L	probably benign	Het
Pi4k2a	G	A	19: 42,101,544 (GRCm39)		probably null	Het
Pik3ap1	A	G	19: 41,316,348 (GRCm39)	S305P	probably damaging	Het
Plcg2	G	A	8: 118,231,054 (GRCm39)	M45I	probably benign	Het
Ppm1m	A	T	9: 106,073,601 (GRCm39)	L317H	probably damaging	Het
Ppp1r21	T	G	17: 88,866,227 (GRCm39)	M341R	probably benign	Het
Prdx3	A	G	19: 60,853,674 (GRCm39)	V217A	possibly damaging	Het
Ptk2b	A	G	14: 66,400,496 (GRCm39)	V773A	possibly damaging	Het
Raly	T	C	2: 154,699,376 (GRCm39)	V60A	probably damaging	Het
Reps1	A	G	10: 17,990,148 (GRCm39)	D420G	probably damaging	Het
Rev1	A	T	1: 38,118,337 (GRCm39)		probably benign	Het
Rgs2	T	G	1: 143,878,650 (GRCm39)		probably benign	Het
Rlf	G	T	4: 121,007,798 (GRCm39)	T394K	probably benign	Het
Rptn	A	T	3: 93,304,792 (GRCm39)	R708S	possibly damaging	Het
Sec23b	T	A	2: 144,414,494 (GRCm39)	M402K	probably benign	Het
Skic2	A	G	17: 35,068,922 (GRCm39)	C26R	probably damaging	Het
Slx9	T	C	10: 77,325,860 (GRCm39)	M170V	possibly damaging	Het
Smpd4	A	G	16: 17,459,992 (GRCm39)		probably benign	Het
Synj2	A	G	17: 6,063,813 (GRCm39)	E434G	probably damaging	Het
Tatdn2	T	A	6: 113,684,326 (GRCm39)	F64I	probably benign	Het
Tex21	A	C	12: 76,263,860 (GRCm39)	H177Q	probably benign	Het
Tln1	T	A	4: 43,535,954 (GRCm39)	Q2077L	probably null	Het
Tnrc6c	T	C	11: 117,611,797 (GRCm39)	V145A	probably benign	Het
Ttn	C	T	2: 76,616,936 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,269,670 (GRCm39)	F954S	possibly damaging	Het
Ugt2a1	A	G	5: 87,634,083 (GRCm39)	S175P	probably damaging	Het
Vcl	A	G	14: 21,035,820 (GRCm39)		probably null	Het
Vegfa	A	T	17: 46,336,176 (GRCm39)		probably benign	Het
Vmn2r68	G	A	7: 84,882,769 (GRCm39)	Q328*	probably null	Het
Vmn2r7	A	G	3: 64,626,864 (GRCm39)	Y142H	probably benign	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Ybx3	G	T	6: 131,347,290 (GRCm39)	R282S	probably damaging	Het
Zfp566	T	C	7: 29,777,194 (GRCm39)	H329R	probably damaging	Het
Zfp786	T	C	6: 47,797,868 (GRCm39)	I357V	probably benign	Het
Zfr2	C	A	10: 81,087,083 (GRCm39)		probably null	Het

Other mutations in Edil3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Edil3	APN	13	89,437,652 (GRCm39)	missense	probably benign	0.40
IGL01628:Edil3	APN	13	89,467,945 (GRCm39)	utr 3 prime	probably benign
IGL02112:Edil3	APN	13	89,328,374 (GRCm39)	missense	probably damaging	1.00
IGL03123:Edil3	APN	13	89,279,855 (GRCm39)	missense	probably damaging	1.00
R0402:Edil3	UTSW	13	89,347,570 (GRCm39)	splice site	probably benign
R0608:Edil3	UTSW	13	89,332,968 (GRCm39)	missense	probably damaging	1.00
R0675:Edil3	UTSW	13	89,325,399 (GRCm39)	missense	probably damaging	0.96
R0735:Edil3	UTSW	13	89,325,297 (GRCm39)	missense	probably damaging	0.97
R0991:Edil3	UTSW	13	89,437,625 (GRCm39)	nonsense	probably null
R1507:Edil3	UTSW	13	89,279,831 (GRCm39)	missense	probably damaging	1.00
R1643:Edil3	UTSW	13	89,437,695 (GRCm39)	critical splice donor site	probably null
R2008:Edil3	UTSW	13	89,093,072 (GRCm39)	splice site	probably null
R3703:Edil3	UTSW	13	89,325,417 (GRCm39)	missense	probably benign	0.01
R4206:Edil3	UTSW	13	89,328,397 (GRCm39)	missense	probably damaging	1.00
R4258:Edil3	UTSW	13	89,325,272 (GRCm39)	missense	probably damaging	1.00
R4570:Edil3	UTSW	13	89,280,016 (GRCm39)	intron	probably benign
R4575:Edil3	UTSW	13	89,467,850 (GRCm39)	missense	probably damaging	1.00
R4576:Edil3	UTSW	13	89,467,850 (GRCm39)	missense	probably damaging	1.00
R5420:Edil3	UTSW	13	89,279,891 (GRCm39)	missense	probably damaging	1.00
R5446:Edil3	UTSW	13	89,332,957 (GRCm39)	missense	possibly damaging	0.65
R5534:Edil3	UTSW	13	89,347,593 (GRCm39)	missense	probably benign	0.00
R5653:Edil3	UTSW	13	89,279,931 (GRCm39)	missense	probably damaging	1.00
R5663:Edil3	UTSW	13	89,190,627 (GRCm39)	missense	probably damaging	0.99
R5664:Edil3	UTSW	13	89,467,832 (GRCm39)	missense	probably damaging	1.00
R6179:Edil3	UTSW	13	88,970,108 (GRCm39)	missense	probably benign
R6254:Edil3	UTSW	13	89,467,848 (GRCm39)	missense	probably damaging	1.00
R6813:Edil3	UTSW	13	89,437,575 (GRCm39)	missense	probably damaging	1.00
R7138:Edil3	UTSW	13	89,279,847 (GRCm39)	missense	probably damaging	1.00
R7215:Edil3	UTSW	13	88,970,169 (GRCm39)	critical splice donor site	probably null
R7295:Edil3	UTSW	13	89,279,902 (GRCm39)	nonsense	probably null
R9490:Edil3	UTSW	13	89,347,591 (GRCm39)	missense	probably benign	0.00
Z1176:Edil3	UTSW	13	89,092,989 (GRCm39)	missense	probably benign	0.19
Z1177:Edil3	UTSW	13	88,970,131 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTCTTTCAAAGTACAAATGACCAGGAG -3'
(R):5'- AGAGCCCTATAATTGGGTGGG -3'

Sequencing Primer
(F):5'- GGCATTGAAGGAATGTTCTC -3'
(R):5'- TGGGGAACATCTAAAAAGAGTTGC -3'

Posted On

2015-10-08